title: Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.
abstract: Gilles de la Tourette syndrome is a complex neuropsychiatric disorder with a strong genetic basis. We identified a male patient with Tourette syndrome-like tics and an apparently balanced de novo translocation [46,XY,t(2;7)(p24.2;q31)]. Further analysis using array comparative genomic hybridisation (CGH) revealed a cryptic deletion at 7q31.1-7q31.2. Breakpoints disrupting this region have been reported in one isolated and one familial case of Tourette syndrome. In our case, IMMP2L, a gene coding for a human homologue of the yeast inner mitochondrial membrane peptidase subunit 2, was disrupted by the breakpoint on 7q31.1, with deletion of exons 1-3 of the gene. The IMMP2L gene has previously been proposed as a candidate gene for Tourette syndrome, and our case provides further evidence of its possible role in the pathogenesis. The deleted region (7q31.1-7q31.2) of 7.2 Mb of genomic DNA also encompasses numerous genes, including FOXP2, associated with verbal dyspraxia, and the CFTR gene.
authors.affiliation: Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK. Chirag.Patel@bwhct.nhs.uk
authors.forename: Chirag
authors.initials: C
authors.lastname: Patel
authors.forename: Lisa
authors.initials: L
authors.lastname: Cooper-Charles
authors.forename: Dominic J
authors.initials: DJ
authors.lastname: McMullan
authors.forename: Judith M
authors.initials: JM
authors.lastname: Walker
authors.forename: Val
authors.initials: V
authors.lastname: Davison
authors.forename: Jenny
authors.initials: J
authors.lastname: Morton
mesh_terms: D001072:Apraxias / Q000235:genetics / Q000503:physiopathology; D056905:Chromosome Breakpoints; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics* / Q000648:ultrastructure; D055028:Comparative Genomic Hybridization; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000172:deficiency / Q000235:genetics; D004247:DNA / Q000032:analysis*; D010450:Endopeptidases / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D051858:Forkhead Transcription Factors / Q000172:deficiency / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D017384:Sequence Deletion; D020323:Tics / Q000235:genetics* / Q000503:physiopathology; D005879:Tourette Syndrome / Q000235:genetics / Q000503:physiopathology; D014178:Translocation, Genetic
chemical_list: C505032:CFTR protein, human; C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D010450:Endopeptidases; C425070:IMMP2L protein, human